A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495287



Internal ID272406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49718581..49719444hg38UCSC Ensembl
chr12:50112364..50113227hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38864
hg19864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056909
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495287
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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